rs61816761
A SNP in the FLG gene on chromosome 1. Its most notable genotype is A;A: Ichthyosis vulgaris (more severe form likely)
- Gene
- FLG
- Location
- Chr 1152,313,385 (GRCh38)
- Highest magnitude
- 3.9Important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadIchthyosis vulgaris (more severe form likely)
- A;GBadIchthyosis, mild form (possible)
- G;GGoodcommon in clinvar
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other FLG SNPs
- rs121909626C;GIchthyosis vulgaris (dry, scaly skin)Very important
- rs138726443A;GIchthyosis vulgaris (dry, scaly skin)Very important
- rs141784184G;TIchthyosis vulgaris (dry, scaly skin)Very important
- rs150597413G;TIchthyosis vulgaris (dry, scaly skin)Very important
- rs535289422A;GIchthyosis vulgaris (dry, scaly skin)Very important
- rs754812742G;TIchthyosis vulgaris (dry, scaly skin)Very important
- rs761212672G;TIchthyosis vulgaris (dry, scaly skin)Very important
- rs797045090A;GIchthyosis vulgaris (dry, scaly skin)Very important
Notes
From SNPedia
Show notes, about 220 words
rs61816761, also known as c.1501C>T, p.Arg501Ter and R501X, is a mutation in the FLG gene on chromosome 1. Considered a condition inherited in a semidominant manner, ichthyosis vulgaris is associated in mild and more severe forms with inheriting either one or two copies, respectively, of the rs61816761(A) mutation. This mutation is perhaps the best known of a relatively large number of loss-of-function (LoF) mutations in the FLG gene that lead to increased risk for ichthyosis vulgaris, atopic dermatitis and eczema. rs61816761 is located in the FLG locus; one of the major loci associated with atopic dermatitis and asthma predisposition. In this study of 7688 type 1 diabetes patients and 9354 controls, the association between rs61816761 and type 1 diabetes was examined. The odds ratios (95% confidence intervals) were 1.01 (0.88-1.17), 1.02 (0.88-1.18), and 0.88 (0.20-3.81) for the T, T;C, and T;T minor alleles/genotypes, respectively, as compared to C;C (P=0.082). In other words, there is no association between Rs61816761 and type 1 diabetes.
A;A
This genotype is homozygous for an ichthyosis vulgaris mutation (scaly skin), and is reported to lead to a more severe form than is seen in heterozygous individuals.
A;G
Some individuals with this genotype have mild cases of ichthyosis vulgaris (scaly skin patches); see rs61816761.
Source and license
Adapted from rs61816761 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.